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Category: genetics – Page 124

Large study supports use of whole genome sequencing in standard cancer care

In the largest study of its kind, scientists report how combining health data with whole genome sequence (WGS) data in patients with cancer can help doctors provide more tailored care for their patients.

The research, published in Nature Medicine, shows that linking WGS data to real-world clinical data can identify changes in cancer DNA that may be relevant for an individual patient’s care, for example by helping identify what treatment might work best for them based on their cancer.

The study, led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster, analyzed data covering over 30 types of solid tumors collected from more than 13,000 participants with cancer in the 100,000 Genomes Project. By looking at the alongside routine clinical data collected from participants over a 5-year period, such as hospital visits and the type of treatment they received, scientists were able to find specific genetic changes in the cancer associated with better or worse survival rates and improved patient outcomes.

Ancient human DNA helps explain why northern Europeans have higher multiple sclerosis risk

Ancient DNA helps explain why northern Europeans have a higher risk of multiple sclerosis than other ancestries: It’s a genetic legacy of horseback-riding cattle herders who swept into the region about 5,000 years ago.

The findings come from a huge project to compare modern DNA with that culled from ancient humans’ teeth and bones — allowing scientists to trace both prehistoric migration and disease-linked genes that tagged along.

When a Bronze Age people called the Yamnaya moved from the steppes of what are now Ukraine and Russia into northwestern Europe, they carried gene variants that today are known to increase people’s risk of multiple sclerosis, researchers reported Wednesday.

Unexpected Genetic Discovery Opens New Opportunities for Human Health

An unexpected genetic discovery in wheat has led to opportunities for the metabolic engineering of versatile compounds with the potential to improve its nutritional qualities and resilience to disease.

Researchers in the Osbourn group at the John Innes Centre have been investigating biosynthetic gene clusters in wheat – groups of genes that are co-localized on the genome and work together to produce specific molecules.

Breakthrough in gene editing: Enhanced virus-like particles promise new era in genetic disease treatment

Background: The Promise of Prime Editing

Prime editing is a promising technology for changing genomic deoxyribonucleic acid (DNA) that has the potential to be used to cure genetic diseases in individuals. Prime editors are proteins that can replace a specific deoxyribonucleic acid sequence with another. PE systems necessitate three distinct nucleic acid hybridizations and are not dependent on double-strand deoxyribonucleic acid breaks or donor deoxyribonucleic acid templates.

Researchers must devise efficient and safe techniques to deliver prime editors in tissues in the in vivo settings to fulfill PE’s objective. While viral delivery techniques such as adenoviruses and adeno-associated viruses (AAVs) can transport PE in vivo, non-viral delivery techniques like lipid nanoparticles can sidestep these concerns by packaging PEs as temporarily expressing messenger ribonucleic acids.

The 5th Industrial Revolution as an engine for human longevity

Before delving into the prospects of the Fifth Industrial Revolution, let’s reflect on the legacy of its predecessor. The Fourth Industrial Revolution, characterised by the fusion of digital, physical, and biological systems, has already transformed the way we live and work. It brought us AI, blockchain, the Internet of Things, and more. However, it also raised concerns about automation’s impact on employment and privacy, leaving us with a mixed legacy.

The promise of the Fifth Industrial Revolution.

The Fifth Industrial Revolution represents a quantum leap forward. At its core, it combines AI, advanced biotechnology, nanotechnology, and quantum computing to usher in a new era of possibilities. One of its most compelling promises is the extension of human life. With breakthroughs in genetic engineering, regenerative medicine, and AI-driven healthcare, we are inching closer to not just treating diseases but preventing them altogether. It’s a vision where aging is not an inevitability, but a challenge to overcome.

Experimental Therapy Eases Alzheimer’s Signs, Symptoms in Mice

The therapy—developed at the University of Nebraska Medical Center (UNMC)—relies on both the immune system to fight key aspects of Alzheimer’s, plus modified cells that zero in on the brain protein plaques that are a hallmark of the disease.

In patients with Alzheimer’s, amyloid-beta protein forms plaques that prevent nerve cells from signaling each other. One theory is that this might cause irreversible memory loss and behavior changes characteristic of Alzheimer’s disease.

The new study was recently published in the journal Molecular Neurodegeneration. Researchers used genetically modified immune-controlling cells called Tregs to target amyloid-beta.

Major Study Identifies 15 Factors Linked to Early Dementia Risk

While dementia is much more common in older adults, hundreds of thousands of people are diagnosed with young-onset dementia (YOD) each year – and an extensive new study sheds some considerable new light on why.

Most previous research in this area has looked at genetics passed down through generations, but here, the team was able to identify 15 different lifestyle and health factors that are associated with YOD risk.

“This is the largest and most robust study of its kind ever conducted,” says epidemiologist David Llewellyn from the University of Exeter in the UK.

Immune Cells Hold the Key to Biological Aging

Summary: Scientists are using epigenetic clocks to reveal our biological age, a true marker of health.

A new study delves into the immune system’s role in understanding and improving the accuracy of these clocks. Their innovative approach sheds light on the relationship between immune cell composition and biological age, with a focus on the balance between naïve and memory immune cells.

This research has significant implications for aging insights, health interventions, and targeted cancer treatments.

Eyeless cave-dwelling Leptonetela spiders still rely on light

In this study, we conducted behavioral experiments and measured survival rates in local caves to minimize the impacts of factors other than light. Although energy-costly eyes were highly reduced or lost in cave-dwelling Leptonetela spiders, which spend their entire life cycles in the complete absence of light, our results demonstrated that they could detect light, and light cues may be used to avoid the perilously dry environment outside the cave. The annotation of core PPGs based on transcriptomic data suggests that cave-dwelling Leptonetela spiders have retained a nearly complete set of PPGs as in the entrance spiders. The molecular evolutionary analysis showed strong purifying selection on PPGs of cave-dwelling Leptonetela spiders. Therefore, our study provides evidence supporting the hypothesis that the phototransduction system of cave-dwelling eyeless Leptonetela spiders may have been under purifying selection rather than being a phylogenetic relic. Our results thus refute the neutral hypothesis.

Leptonetela spiders are small cryptozoic spiders that build sheet webs for capturing prey in twilight or lightless environment, such as leaf litter, rotting logs, rock crevices, and caves (31). Light is suggested to be the primary selective force driving the evolution of eyes of cave animals, thus, eyes are often reduced or lost as cave preadaptation in many litter-dwelling arthropods (36–38). Leptonetela spiders have lost anterior median eyes that are generally involved in identifying and stalking prey in spiders, likely due to their twilight or lightless habitats. In addition, cave-dwelling Leptonetela spiders living in lightless deep caves exhibit various degrees of eye reduction (highly reduced or eyeless) compared to their entrance spider relatives that have six intact eyes. Thus, Leptonetela spiders provided an ideal system for studying the evolution of eyes and visual systems.

This study provides evidence demonstrating negative phototaxis in cave-dwelling spiders, a highly diverse group that plays a critical role in cave ecosystems as top predators (23). Negative phototaxis has frequently been found in other subterranean animals. For example, the cave-dwelling carrion beetle Ptomaphagus hirtus that has highly reduced eyes nonetheless displays strongly negative phototaxis and maintains a reduced but functional phototransduction system, as shown by transcriptomic data (13). However, Langille et al. (14) reported that five of six subterranean water beetles completely lacked phototactic responses, and the authors proposed negative phototaxis as a preadaptation to living in permanent darkness for ancestral cave-dwelling animals. We speculate that drought resistance may play an important role in the retention of PPGs in Leptonetela spiders.